Adapted Evidence-Based Clinical Practice Guidelines for Diagnosis and Treatment of Epilepsies in Children: A Tertiary Children's Hospital Update.

HYPOTHESIS AND/OR BACKGROUND: We recently updated and merged the adapted clinical practice guidelines (CPGs) for the diagnosis and treatment of children with epilepsy of a tertiary-level hospital. Medical knowledge is always evolving. As a result, it is critical to revisit the clinical standards on a frequent basis to ensure that the best services are offered to the target receivers. The purpose of this article was to update and merge the CPGs at Alexandria University Children Hospital (AUCH) for the diagnosis (2014) and treatment (2016) of children with epilepsy to unify and standardize the practice for better care and outcome. METHODS: This review and update CPG project was initiated by assembling a Guideline Review Group (GRG). The GRG conducted focus group discussions and decided to search any published updates of the recommendations of the previously identified high-quality and evidence-based CPG developed by the SIGN (Scottish Intercollegiate Guidelines Network) and to merge the two previous local CPGs under one comprehensive CPG for full management of epilepsy in children. The high quality of the selected source CPG from SIGN was based on quality assessment of CPGs undertaken previously using the Appraisal of Guidelines for Research and Evaluation II Instrument. The GRG followed the Checklist for the Reporting of Updated Guidelines (CheckUp), which is the CPG tool recommended by the Enhancing the Quality and Transparency of health Research Network for reporting of updated CPGs in addition to the RIGHT-Ad@pt Checklist for Adapted CPGs. The finalized updated CPG draft was sent to the external reviewer group topic experts. RESULTS: The group updated 10 main categories of recommendations from one source CPG (SIGN). The recommendations included (1) epilepsy diagnosis; (2) recognition, identification, and referral; (3) pharmacological treatment of epilepsy and epilepsy syndromes; (4) nonpharmacological treatment of epilepsy and epilepsy syndromes; (5) managing pharmacoresistant epilepsy; (6) management of epilepsy in special groups; (7) medications; (8) children and caregiver education and support; (9) comorbidities and mortality; and (10) transitional care from pediatric to adult care services. CONCLUSIONS: The finalized CPG provides evidence-based guidance to health care providers in AUCH for the diagnosis and management of epilepsy in children. The study also established the significance of a collaborative clinical and methodological expert group for the update of CPGs, as well as the usability of the "CheckUp" and "RIGHT-Ad@pt" CPG Tools.

Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?

OBJECTIVES: To evaluate the relationship between TGFBR3 rs284875 single nucleotide polymorphism (SNP) state and silent cerebral infarction (SCI) in asymptomatic patients with sickle cell disease (SCD). METHODS: A cross-sectional study was conducted on 50 children with SCD above 2 y of age followed up at the hematology outpatient clinic of Alexandria University Children's Hospital in Egypt. Twenty-four healthy children were included as a control group. All patients included in the study were subjected to complete history and clinical examination. Real-time polymerase chain reaction was performed on patients and controls for identification of SNP rs284875 of the TGFBR3 gene. A magnetic resonance imaging (MRI) of the brain were performed only on patients for detection of SCI. RESULTS: Fifty SCD patients were enrolled (26 males and 24 females), with a median age of 10.9 y (2.3-17.8 y), and 24 children as healthy control for the studied SNP. Thirty-five (70%) patients had homozygous SCD, while 30% had sickle ß-thalassemia. The brain MRI was normal in all the patients except for 2 patients who had features of SCI. The TGFBR3 rs284875 SNP was detected in 15 (30%) patients in the homozygous state (GG) versus only 1 (4.2%) child from the control group (p = 0.003). The prevalence of SCI was low in the study population and there was no statistically significant relationship between the TGFBR3 rs284875 SNP status and the presence of SCI in the brain MRI (p = 0.621). CONCLUSIONS: This study confirmed a low prevalence of SCI in the SCD patient included in the study. The TGFBR3 rs284875 SNP did not significantly increase SCI among those patients.